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Volumn 65, Issue 5, 2013, Pages 487-496

Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: Long term follow-up on patients undergone to hematopoietic stem cell transplantation

Author keywords

Central nervous system; Hematopoietic stem cell transplantation; Magnetic resonance imaging; Mucopolysaccharidoses

Indexed keywords

CHONDROITIN SULFATE; CREATININE; DERMATAN SULFATE; ENZYME; GLYCOSAMINOGLYCAN; HEPARAN SULFATE; IDURONATE 2 SULPHATASE ENZYME; UNCLASSIFIED DRUG;

EID: 84887075747     PISSN: 00264946     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (17)

References (25)
  • 1
    • 0027944127 scopus 로고
    • Long-term follow up of a patient transplanted for Hunter's disease type IIB: A case report and literature review
    • Bergstrom SK, Quinn JJ, Greenstein R, Ascensao J. Long-term follow up of a patient transplanted for Hunter's disease type IIB: a case report and literature review. Bone Marrow Transplant 1994; 14.653-8.
    • (1994) Bone Marrow Transplant , vol.14 , pp. 653-658
    • Bergstrom, S.K.1    Quinn, J.J.2    Greenstein, R.3    Ascensao, J.4
  • 3
    • 0029125545 scopus 로고
    • Bone marrow transplantation in Hunter Sindrome (Mucopolysaccharidosis type II): Two years follow-up of the first italian patient and review of the literature
    • Coppa GV, Gabrielli O, Zampini L, Pierani P. Bone marrow transplantation in Hunter Sindrome (Mucopolysaccharidosis type II): two years follow-up of the first italian patient and review of the literature. Pediatria Medica Chirurgica 1995;17:227-35.
    • (1995) Pediatria Medica Chirurgica , vol.17 , pp. 227-235
    • Coppa, G.V.1    Gabrielli, O.2    Zampini, L.3    Pierani, P.4
  • 9
    • 0036362937 scopus 로고    scopus 로고
    • Stem cell bone marrow transplantation in patients with metabolic storage diseases
    • Krivit W. Stem cell bone marrow transplantation in patients with metabolic storage diseases. Advances in Pediatrics 2002;49:359-78.
    • (2002) Advances in Pediatrics , vol.49 , pp. 359-378
    • Krivit, W.1
  • 10
    • 11144325072 scopus 로고    scopus 로고
    • Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases
    • DOI 10.1007/s00281-004-0166-2
    • Krivit W. Allogenic stem cells transplantation for the treatment of lysosomal and peroxisomal metabolic disease. Springer Semin Immunopathol 2004;26:119-32. (Pubitemid 40021961)
    • (2004) Springer Seminars in Immunopathology , vol.26 , Issue.1-2 , pp. 119-132
    • Krivit, W.1
  • 11
    • 79959802247 scopus 로고    scopus 로고
    • Brain and spine MRI feature of Hunter disease: Frequency, natural evolution and response to therapy
    • 04
    • Manara R, Priante E, Grimaldi M. Brain and spine MRI feature of Hunter disease: frequency, natural evolution and response to therapy. Journal Of Inherited Metabolic Disease 04/2011.
    • (2011) Journal of Inherited Metabolic Disease
    • Manara, R.1    Priante, E.2    Grimaldi, M.3
  • 13
    • 84857061064 scopus 로고    scopus 로고
    • The role of enzyme replacement therapy in severe Hunter syndrome - An expert panel consensus
    • Muenzer J, Bodamer O, Burton B, Clarke L, Frenking GS, Giugliani R et al. The role of enzyme replacement therapy in severe Hunter syndrome - An expert panel consensus. Eur J Pediatr 2012;171:181-8.
    • (2012) Eur J Pediatr , vol.171 , pp. 181-188
    • Muenzer, J.1    Bodamer, O.2    Burton, B.3    Clarke, L.4    Frenking, G.S.5    Giugliani, R.6
  • 14
    • 0034183048 scopus 로고    scopus 로고
    • Hematopoietic cell transplantation for Mucopolysaccharidosis type 2 (Hunter Syndrome)
    • Peters C, Krivit W. Hematopoietic cell transplantation for Mucopolysaccharidosis type 2 (Hunter Syndrome). Bone Marrow Transplant 2000;25:1097-9.
    • (2000) Bone Marrow Transplant , vol.25 , pp. 1097-1099
    • Peters, C.1    Krivit, W.2
  • 15
    • 61849185347 scopus 로고    scopus 로고
    • Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis
    • Piotrowska E, Jakobkiewicz-Banecka J, Tylki-Szymanska A, Czartoryska B, Wegrzyn A, Wegrzyn G. Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis. Acta Paediatrica 2009;98:743-9.
    • (2009) Acta Paediatrica , vol.98 , pp. 743-749
    • Piotrowska, E.1    Jakobkiewicz-Banecka, J.2    Tylki-Szymanska, A.3    Czartoryska, B.4    Wegrzyn, A.5    Wegrzyn, G.6
  • 16
    • 80355132630 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
    • Open Access Review
    • Scarpa M, Almassy Z, Beck M. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet Journal of Rare Disease 2011;6:72 (Open Access Review).
    • (2011) Orphanet Journal of Rare Disease , vol.6 , pp. 72
    • Scarpa, M.1    Almassy, Z.2    Beck, M.3
  • 21
    • 0033982248 scopus 로고    scopus 로고
    • The molecular basis of lysosomal storage diseases and their treatment
    • Winchester B, Vellodi A, Young E. The molecular basis of lysosomal storage diseases and their treatment. Biochemical Society Transactions 2000;28:150-4. (Pubitemid 30103231)
    • (2000) Biochemical Society Transactions , vol.28 , Issue.2 , pp. 150-154
    • Winchester, B.1    Vellodi, A.2    Young, E.3
  • 22
    • 41049096402 scopus 로고    scopus 로고
    • Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II
    • Wraith JE. Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II. Acta Paediatrica 2008, volume 97, issue supplement s457:76-78.
    • (2008) Acta Paediatrica , vol.97 , Issue.SUPPL. S457 , pp. 76-78
    • Wraith, J.E.1
  • 23
    • 39149118050 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy
    • Wraith JE, Scarpa M, Beck M et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 2008;167:267-77.
    • (2008) Eur J Pediatr , vol.167 , pp. 267-277
    • Wraith, J.E.1    Scarpa, M.2    Beck, M.3
  • 24
    • 0020613358 scopus 로고
    • The natural history of the severe form of Hunter's syndrome: A study based on 52 cases
    • Young ID, Harper PS. The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Dev Med Child Neurol 1983;25:481-9. (Pubitemid 13030892)
    • (1983) Developmental Medicine and Child Neurology , vol.25 , Issue.4 , pp. 481-489
    • Young, I.D.1    Harper, P.S.2
  • 25
    • 0020419764 scopus 로고
    • A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms
    • Young ID, Harper PS, Newcombe RG, Archer IM. A clinical and genetic study of Hunter's syndrome. Differences between the mild and severe forms. J Med Genet 1982;19:408-11. (Pubitemid 13167537)
    • (1982) Journal of Medical Genetics , vol.19 , Issue.6 , pp. 408-411
    • Young, I.D.1    Harper, P.S.2    Newcombe, R.G.3    Archer, I.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.